Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.
Javanshad R et al.
Lipids in Health and Disease, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-pick type C disease.
Shammas H et al.
Molecular Genetics and Metabolism, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Regulation and function of endoplasmic reticulum autophagy in neurodegenerative diseases.
Zhao XY et al.
Neural Regeneration Research, 2025
Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease.
Dos Santos Mendes R et al.
Frontiers in Neurology, 2025
Extracellular vesicles in Niemann pick disease type C: current knowledge and future opportunities.
Hawthorne SCB et al.
Frontiers in Cellular Neuroscience, 2025
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.
Maharaj AV et al.
Nature Communications, 2024
Genetic aspects of ataxias in a cohort of Turkish patients.
Gogus B et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Mutant induced neurons and humanized mice enable identification of Niemann-Pick type C1 proteostatic therapies.
Azaria RD et al.
Jci Insight, 2024
Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.
Hosseini K et al.
Cell Biochemistry and Function, 2024
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
Farhat NY et al.
International Journal of Molecular Sciences, 2024
Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62.
Sousa M et al.
Parkinsonism & Related Disorders, 2024
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
Liang H et al.
Journal of Inherited Metabolic Disease, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T et al.
The New England Journal of Medicine, 2024
Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
Tao C et al.
Bmc Infectious Diseases, 2024
Video-Oculography Assessment in Neurodegenerative Ataxias and Niemann Pick Type C.
Karaaslan Z et al.
Noro Psikiyatri Arsivi, 2024
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.
Encarnação M et al.
Genes, 2023
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Guatibonza Moreno P et al.
European Journal of Human Genetics : Ejhg, 2023
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.
Las Heras M et al.
Npj Genomic Medicine, 2023
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C et al.
Orphanet Journal of Rare Diseases, 2023
Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results.
Hammerschmidt TG et al.
Naunyn-schmiedeberg's Archives of Pharmacology, 2023
NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts.
Somerville EN et al.
Neurobiology of Aging, 2023
Novel Mutation in the Feline NPC2 Gene in Cats with Niemann-Pick Disease.
Rakib TM et al.
Animals : an Open Access Journal From Mdpi, 2023
The Antifungal Antibiotic Filipin as a Diagnostic Tool of Cholesterol Alterations in Lysosomal Storage Diseases and Neurodegenerative Disorders.
Bruno F et al.
Antibiotics (basel, Switzerland), 2023
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
Kubaski F et al.
International Journal of Neonatal Screening, 2022
Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.
Kresojević N et al.
Journal of Neurology, 2022
Saturation variant interpretation using CRISPR prime editing.
Erwood S et al.
Nature Biotechnology, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC et al.
Orphanet Journal of Rare Diseases, 2022
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Baxter LL et al.
Scientific Reports, 2022
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
Abtahi R et al.
Hereditas, 2022
Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.
Marouane A et al.
European Journal of Pediatrics, 2022
Spectrum of Movement Disorders in Niemann-Pick Disease Type C.
Devaraj R et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
Völkner C et al.
International Journal of Molecular Sciences, 2021
Psychosis symptoms associated with Niemann-Pick disease type C.
Ong LT
Psychiatric Genetics, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport.
Yoon HJ et al.
Journal of Neurochemistry, 2021
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
Colombo A et al.
Nature Communications, 2021